ClinVar for MedGen (Select 87430) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from MedGen

Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2581549	NM_207581.4(DUOXA2):c.573G>A (p.Trp191Ter)	DUOXA2 (W191*)	Single nucleotide variant (nonsense)	Thyroglobulin synthesis defect	GPathogenic
Select item 1806167	NM_207581.4(DUOXA2):c.298del (p.Arg100fs)	DUOXA2 (R100fs)	Deletion (frameshift variant)	Thyroglobulin synthesis defect	GPathogenic
Select item 1705348	NM_207581.4(DUOXA2):c.228G>T (p.Trp76Cys)	DUOXA2 (W76C)	Single nucleotide variant (missense variant)	Thyroglobulin synthesis defect	GLikely pathogenic
Select item 1701924	NM_207581.4(DUOXA2):c.228G>C (p.Trp76Cys)	DUOXA2 (W76C)	Single nucleotide variant (missense variant)	Thyroglobulin synthesis defect	GPathogenic/Likely pathogenic
Select item 974896	NM_207581.4(DUOXA2):c.95dup (p.Leu32fs)	DUOXA2 (L32fs)	Duplication (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 972709	NM_207581.4(DUOXA2):c.604G>A (p.Ala202Thr)	DUOXA2 (A202T)	Single nucleotide variant (missense variant)	Thyroglobulin synthesis defect	GPathogenic
Select item 917857	NM_207581.4(DUOXA2):c.501C>A (p.Cys167Ter)	DUOXA2 (C167*)	Single nucleotide variant (nonsense)	Thyroglobulin synthesis defect	GPathogenic
Select item 547935	NM_207581.4(DUOXA2):c.414C>G (p.Tyr138Ter)	DUOXA2 (Y138*)	Single nucleotide variant (nonsense)	Thyroglobulin synthesis defect	GPathogenic
Select item 265105	NM_207581.4(DUOXA2):c.205+2T>C	DUOXA2	Single nucleotide variant (splice donor variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 263306	NM_207581.4(DUOXA2):c.555-18C>T	DUOXA2	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 263305	NM_207581.4(DUOXA2):c.554+6T>C	DUOXA2	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 263304	NM_207581.4(DUOXA2):c.341-4A>G	DUOXA2	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 263303	NM_207581.4(DUOXA2):c.341-15C>T	DUOXA2	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 263302	NM_207581.4(DUOXA2):c.298C>G (p.Arg100Gly)	DUOXA2 (R100G)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
Select item 225344	NM_207581.4(DUOXA2):c.413dup (p.Tyr138Ter)	DUOXA2 (Y138*)	Duplication (nonsense)	Thyroglobulin synthesis defect	GPathogenic
Select item 444	NM_207581.4(DUOXA2):c.738C>G (p.Tyr246Ter)	DUOXA2 (Y246*)	Single nucleotide variant (nonsense)	Inborn genetic diseases +1 more	GPathogenic/Likely pathogenic